Publications by authors named "M Rab"
Article Synopsis
- The study investigates the use of osmotic gradient ektacytometry (Osmoscan) as a potential diagnostic tool to differentiate neuroacanthocytosis syndromes (NAS) from other neurodegenerative diseases.
- Significant differences in red blood cell properties were found in NAS patients compared to healthy controls and patients with other conditions, particularly in specific osmolality measurements.
- While some Osmoscan parameters showed promise, only two of them achieved 100% specificity for distinguishing NAS from other diseases, highlighting the need for further research with larger samples to solidify diagnostic criteria.
Article Synopsis
- Membranopathies include blood disorders caused by genetic changes in red blood cell membrane proteins, with hereditary spherocytosis and stomatocytosis being key examples, while CDA II shows similar symptoms.
- Mitapivat, a new drug that activates pyruvate kinase, has shown promise in raising hemoglobin levels and reducing blood cell breakdown in various diseases and is being tested in a trial with around 25 adults who have membranopathies or CDA II.
- The SATISFY trial aims to determine the safety and effectiveness of mitapivat over an 8-week period, with a focus on measuring its impact on hemoglobin, hemolysis, and patient-reported outcomes.
Mitapivat is an investigational, oral, small-molecule allosteric activator of pyruvate kinase (PK). PK is a regulatory glycolytic enzyme that is key in providing the red blood cell (RBC) with sufficient amounts of adenosine triphosphate (ATP). In sickle cell disease (SCD), decreased 2,3-DPG levels increase the oxygen affinity of hemoglobin, thereby preventing deoxygenation and polymerization of sickle hemoglobin.
View Article and Find Full Text PDFBackground: The masseteric nerve (MN) is often used as a donor nerve for facial reanimation. In addition to already established techniques, MN transfer is rapidly gaining importance, mainly due to the single-stage approach of the procedure and its reconstructive potential. This anatomical study and the associated questionnaire study aimed to evaluate the established methods for identification of the MN and its suitability for direct nerve transfer as well as to assess the importance of MN transfer in the daily clinical routine.
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